本文選題：Y-STR　切入點：山西　出處：《山西醫(yī)科大學》2008年碩士論文

【摘要】： 目的由于Y染色體遺傳標記多態(tài)性較低,需要尋找更多的基因座以用于遺傳學分析。本實驗從染色體基因座中篩選出兩個新的Y-STR基因座DYS716和DYS721,調(diào)查這兩個基因座在山西漢族人群中的等位基因頻率及單倍型分布,并對這兩個新基因座在法醫(yī)學上的應(yīng)用進行可行性探討。 方法(1)樣本采集:隨機抽取114例山西漢族健康男性無關(guān)個體靜脈血進行等位基因頻率及單倍型調(diào)查;隨機抽取20例山西健康女性血樣進行陰性對照;采集20組兩代家系血樣進行突變觀察;采集同一例健康男性尸體的血液和組織器官進行同一性觀察;采集3例常見雄性動物血液進行種屬特異性觀察。(2)用有機溶劑提取法提取基因組DNA;根據(jù)GDB基因庫提供的引物序列合成引物。(3) PCR擴增后,進行擴增產(chǎn)物的非變性聚丙烯酰胺凝膠(PAGE)電泳分離和硝酸銀染色分型。(4)計算其法醫(yī)學參數(shù)。 結(jié)果研究發(fā)現(xiàn)這兩個基因座DYS716和DYS721在114例山西漢族男性群體中均檢測出5個等位基因,它們分別是DYS716*15、DYS716*16、DYS716*17、DYS716*18和DYS716*19;DYS721*9、DYS721*10、DYS721*11、DYS721*12和DYS721*13;DYS716的等位基因頻率分別為0.0263、0.1754、0.5263、0.2456和0.0263;DYS721的等位基因頻率分別為0.0526、0.5351、0.2193、0.1842和0.009。在山西漢族群體中,基因座DYS716的基因多樣性(GD)為0.6361,其個人識別能力(DP)和非父排除率(PE)為0.6361;基因座DYS721的基因多樣性(GD)為0.6344,其個人識別率(DP)和非父排除率(PE)為0.6344。單倍型的多樣性(HD)為0.8810。20例女性對照無特異性擴增產(chǎn)物且20組兩代家系調(diào)查無突變。同一男性個體血液、組織器官檢測結(jié)果分型一致。3例動物血樣中均未觀察到特異性擴增。 結(jié)論DYS716和DYS721在山西漢族男性群體中均有較好的遺傳多態(tài)性和穩(wěn)定性,所得到的數(shù)據(jù)可為山西漢族人群法醫(yī)學個人識別、親子鑒定及遺傳學研究提供依據(jù)。
[Abstract]:Objective because of the low polymorphism of Y chromosome, Two new Y-STR loci, DYS716 and DYS721, were screened from chromosome loci to investigate the allele frequency and haplotype distribution in Shanxi Han population. The feasibility of these two new loci in forensic medicine was discussed. Methods 1) sampling: the allele frequency and haplotype were investigated in venous blood of 114 unrelated individuals of Han nationality in Shanxi, and 20 healthy female blood samples were collected randomly for negative control. Two generations of blood samples of 20 groups were collected for mutation observation, and the blood and tissue organs of the same healthy male cadaver were collected for identity observation. Three common male animals were collected for species-specific observation. The genomic DNAs were extracted by organic solvent extraction method. The primers were synthesized according to the primer sequence provided by GDB gene bank. The primers were amplified by PCR. The polyacrylamide gel electrophoresis separation and silver nitrate staining were performed to calculate the forensic parameters. Results the two loci, DYS716 and DYS721, were found to have 5 alleles in 114 Han male populations in Shanxi Province. They were DYS716, DYS716, 16DYS716, 17DYS71618 and DYS71616, DYS7219DYS72110, DYS72111, DYS72112 and DYS7213DYS716, respectively. The alleles frequencies of DYS716 and DYS716 were 0.02630.1750.52630.2456 and 0.0263DYS721, respectively. The allele frequencies of DYS721 and DYS716 were 0.05263510.219330.1842 and 0.00992, respectively. The genetic diversity of locus DYS716 is 0.6361, and its personal recognition ability and non-paternal exclusion rate are 0.6361, and the gene diversity of locus DYS721 is 0.6344, the personal identification rate and non-paternal exclusion rate are 0.6344. The diversity HDD of haplotype is 0.8810.20 cases. There was no specific amplification product in female control and no mutation was found in 20 groups of two generations. No specific amplification was observed in the blood samples of 3 animals. Conclusion both DYS716 and DYS721 have good genetic polymorphism and stability in the male population of Shanxi Han nationality. The data obtained can provide evidence for forensic personal identification, paternity test and genetic research of Shanxi Han population.
【學位授予單位】：山西醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2008
【分類號】：D919

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